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VAIHS
MCID: VSC058
MIFTS: 49

Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome (VAIHS)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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MalaCards integrated aliases for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

Name: Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 57 73 6
Adenosine Deaminase 2 Deficiency 57 25 20 43
Ada2 Deficiency 25 20 43 73
Dada2 57 25 20 43
Polyarteritis Nodosa, Childhood-Onset 57 20 39
Pan 57 74 73
Childhood-Onset Polyarteritis Nodosa 20 43
Vasculitis Due to Ada2 Deficiency 20 58
Vasculitis Due to Dada2 20 58
Deficiency of Ada2 43 6
Vaihs 57 73
Polyarteritis Nodosa, Childhood-Onset; Pan 57
Adenosine Deaminase 2 Deficiency; Dada2 57
Deficiency of Adenosine Deaminase 2 25
Polyarteritis Nodosa 73
Periarteritis Nodosa 73
Sneddon Syndrome 43

Characteristics:

Orphanet epidemiological data:

58
vasculitis due to ada2 deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
variable manifestations
variable age at onset, usually in first decade, but can occur later


HPO:

31
vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset infantile onset childhood onset neonatal onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Bone diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare immunological diseases


Sources

Summaries for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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MedlinePlus Genetics : 43 Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues. Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family.Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, ADA2 deficiency causes abnormal, unprovoked inflammation that can damage the body's tissues and organs, particularly blood vessels. (Inflammation of blood vessels is known as vasculitis.) Other tissues affected by abnormal inflammation can include the skin, gastrointestinal system, liver, kidneys, and nervous system. Depending on the severity and location of the inflammation, the disorder can cause disability or be life-threatening.Signs and symptoms that can occur with ADA2 deficiency include fevers that are intermittent, meaning they come and go; areas of net-like, mottled skin discoloration called livedo racemosa; an enlarged liver and spleen (hepatosplenomegaly); and recurrent strokes affecting structures deep in the brain that can start in the first few years of life. In some people, ADA2 deficiency causes additional immune system abnormalities that increase the risk of bacterial and viral infections.ADA2 deficiency is sometimes described as a form of polyarteritis nodosa (PAN), a disorder that causes inflammation of blood vessels throughout the body (systemic vasculitis). However, not all researchers classify ADA2 deficiency as a type of PAN.

MalaCards based summary : Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome, also known as adenosine deaminase 2 deficiency, is related to sneddon syndrome and cutaneous polyarteritis nodosa. An important gene associated with Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome is ADA2 (Adenosine Deaminase 2). The drugs Prednisolone and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and bone marrow, and related phenotypes are anemia and hypertension

GARD : 20 Adenosine Deaminase 2 deficiency is an inherited disorder causing inflammation in the body, especially in the tissues that make up the blood vessels (vasculitis). Though the severity and age of onset can vary, most patients begin having symptoms within the first decade of life. Symptoms may include the following: recurrent strokes, fevers, muscle pain, an enlarged liver or spleen, and areas of skin discoloration known as livedo racemosa or livedo reticularis. The strokes can affect physical or cognitive functioning. Other symptoms may include high blood pressure, aneurysms, immune system abnormalities, and necrosis of the fingers/toes. ADA2 deficiency is thought to be caused by mutations in the CECR1 gene and inherited in an autosomal recessive manner. Mutations in the CECR1 gene have also been associated with a familial form of Sneddon syndrome. Individuals with this form of Sneddon syndrome have been reported to have similar findings as those with ADA2 deficiency but with a later onset.

OMIM® : 57 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency (van Eyck et al., 2014). Lee (2018) reviewed the basic biology of ADA2 and the various clinical manifestations of ADA2 deficiency, which include vasculitis affecting small- and medium-sized vessels causing early-onset stroke with subsequent neurologic signs, skin ulcerations resembling polyarteritis nodosa, peripheral neuropathy, immunodeficiency, autoimmune features, and hematologic abnormalities, including anemia and leukopenia. The clinical features are highly pleiotropic, and patients can present with only some of these main features. The hematologic manifestations of the disorder may sometimes resemble Diamond-Blackfan anemia (see, e.g., DBA1, 105650). (615688) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome: An autosomal recessive, systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly.

GeneReviews: NBK544951
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Related Diseases for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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Diseases related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 625)
# Related Disease Score Top Affiliating Genes
1 sneddon syndrome 11.9
2 cutaneous polyarteritis nodosa 11.7
3 primary polyarteritis nodosa 11.3
4 single-organ polyarteritis nodosa 11.3
5 secondary polyarteritis nodosa 11.3
6 retinal vasculitis 11.2
7 autoimmune inner ear disease 11.2
8 microscopic polyangiitis 10.9
9 churg-strauss syndrome 10.8
10 aneurysm 10.8
11 glomerulonephritis 10.8
12 kawasaki disease 10.7
13 mononeuritis multiplex 10.7
14 allergic angiitis 10.7
15 purpura 10.7
16 familial mediterranean fever 10.6
17 hepatitis b 10.6
18 polyneuropathy 10.6
19 cholecystitis 10.5
20 acute kidney failure 10.5
21 hypereosinophilic syndrome 10.5
22 antiphospholipid syndrome 10.5
23 hepatitis c virus 10.5
24 proteinuria, chronic benign 10.5
25 malignant hypertension 10.5
26 hepatitis 10.5
27 cryoglobulinemia 10.5
28 granulomatosis with polyangiitis 10.4
29 mononeuropathy 10.4
30 crescentic glomerulonephritis 10.4
31 thrombocytosis 10.4
32 connective tissue disease 10.4
33 peritonitis 10.4
34 coronary artery aneurysm 10.4
35 cerebrovascular disease 10.4
36 branchiootic syndrome 1 10.4
37 orchitis 10.4
38 rapidly progressive glomerulonephritis 10.4
39 colitis 10.4
40 erythema nodosum 10.4
41 intestinal perforation 10.4
42 myopathy 10.4
43 kidney disease 10.4
44 polyarteritis nodosa 10.4
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
46 sensorineural hearing loss 10.4
47 allergic disease 10.4
48 neuritis 10.4
49 anca-associated vasculitis 10.4
50 pulmonary tuberculosis 10.3

Graphical network of the top 20 diseases related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:



Diseases related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome
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Symptoms & Phenotypes for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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Human phenotypes related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

31 (show top 50) (show all 55)
# Description HPO Frequency HPO Source Accession
1 anemia 31 occasional (7.5%) HP:0001903
2 hypertension 31 very rare (1%) HP:0000822
3 splenomegaly 31 very rare (1%) HP:0001744
4 hepatomegaly 31 very rare (1%) HP:0002240
5 optic atrophy 31 very rare (1%) HP:0000648
6 type i diabetes mellitus 31 very rare (1%) HP:0100651
7 portal hypertension 31 very rare (1%) HP:0001409
8 immunodeficiency 31 very rare (1%) HP:0002721
9 recurrent otitis media 31 very rare (1%) HP:0000403
10 hashimoto thyroiditis 31 very rare (1%) HP:0000872
11 elevated hepatic transaminase 31 very rare (1%) HP:0002910
12 skin ulcer 31 very rare (1%) HP:0200042
13 dilated cardiomyopathy 31 very rare (1%) HP:0001644
14 arthralgia 31 very rare (1%) HP:0002829
15 myalgia 31 very rare (1%) HP:0003326
16 lymphopenia 31 very rare (1%) HP:0001888
17 purpura 31 very rare (1%) HP:0000979
18 stroke 31 very rare (1%) HP:0001297
19 peripheral neuropathy 31 very rare (1%) HP:0009830
20 skin rash 31 very rare (1%) HP:0000988
21 eczema 31 very rare (1%) HP:0000964
22 vasculitis 31 very rare (1%) HP:0002633
23 esophageal varix 31 very rare (1%) HP:0002040
24 cutis marmorata 31 very rare (1%) HP:0000965
25 feeding difficulties 31 very rare (1%) HP:0011968
26 bone marrow hypocellularity 31 very rare (1%) HP:0005528
27 aphasia 31 very rare (1%) HP:0002381
28 lymphadenopathy 31 very rare (1%) HP:0002716
29 pancytopenia 31 very rare (1%) HP:0001876
30 elevated c-reactive protein level 31 very rare (1%) HP:0011227
31 hepatosplenomegaly 31 very rare (1%) HP:0001433
32 elevated erythrocyte sedimentation rate 31 very rare (1%) HP:0003565
33 leukocytosis 31 very rare (1%) HP:0001974
34 oral ulcer 31 very rare (1%) HP:0000155
35 recurrent fever 31 very rare (1%) HP:0001954
36 raynaud phenomenon 31 very rare (1%) HP:0030880
37 lymphoproliferative disorder 31 very rare (1%) HP:0005523
38 thrombocytosis 31 very rare (1%) HP:0001894
39 recurrent sinusitis 31 very rare (1%) HP:0011108
40 erythema nodosum 31 very rare (1%) HP:0012219
41 stiff skin 31 very rare (1%) HP:0030053
42 lupus anticoagulant 31 very rare (1%) HP:0025343
43 urticarial plaque 31 very rare (1%) HP:0030351
44 aphthous ulcer 31 very rare (1%) HP:0032154
45 decreased circulating antibody level 31 very rare (1%) HP:0004313
46 livedo racemosa 31 very rare (1%) HP:0033260
47 renal artery aneurysm 31 very rare (1%) HP:0033261
48 ataxia 31 HP:0001251
49 arthritis 31 HP:0001369
50 ophthalmoplegia 31 HP:0000602

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
ataxia
headache
aphasia
hemiplegia
agitation
more
Abdomen Liver:
hepatomegaly

Immunology:
immunodeficiency
leukopenia
leukocytosis
hypogammaglobulinemia (in some patients)

Muscle Soft Tissue:
myalgia

Skin Nails Hair Skin Histology:
panniculitis
vasculitis in the reticular dermis
inflammatory infiltrate
interstitial neutrophils and macrophages
perivascular t lymphocytes
more
Abdomen Gastrointestinal:
gastrointestinal pain

Cardiovascular Vascular:
hypertension (in some patients)
vasculitis, small and medium vessels
stroke, ischemic
stroke, hemorrhagic
polyarteritis nodosa
more
Metabolic Features:
fever, recurrent

Genitourinary Kidneys:
renal artery aneurysms

Skeletal Feet:
ischemic digital necrosis

Abdomen Spleen:
splenomegaly

Skeletal:
arthritis

Head And Neck Eyes:
ophthalmoplegia
optic atrophy (1 patient)

Skin Nails Hair Skin:
purpura
erythema nodosum
livedo racemosa
livedo reticularis
urticarial rash

Neurologic Peripheral Nervous System:
raynaud phenomenon
neuropathy

Hematology:
anemia (in some patients)
thrombocytosis (in some patients)
lupus anticoagulant (in some patients)

Laboratory Abnormalities:
abnormal liver enzymes
acute-phase reactants during fever

Head And Neck Face:
facial nerve palsies

Skeletal Hands:
ischemic digital necrosis

Clinical features from OMIM®:

615688 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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Drugs for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
8
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
9
Mycophenolic acid Approved Phase 4 24280-93-1 446541
10
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
11 Anti-Inflammatory Agents Phase 4
12 Hormones Phase 4
13 Protective Agents Phase 4
14 Alkylating Agents Phase 4
15 Neuroprotective Agents Phase 4
16 Hormone Antagonists Phase 4
17 Methylprednisolone Acetate Phase 4
18 glucocorticoids Phase 4
19 Dermatologic Agents Phase 4
20 Antineoplastic Agents, Hormonal Phase 4
21 Antiemetics Phase 4
22 Gastrointestinal Agents Phase 4
23 Antibiotics, Antitubercular Phase 4
24 Antitubercular Agents Phase 4
25
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
26
Azathioprine Approved Phase 2 446-86-6 2265
27
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
28
Naltrexone Approved, Investigational, Vet_approved Phase 2 16590-41-3 5360515
29
Ethanol Approved Phase 2 64-17-5 702
30
Colchicine Approved Phase 2 64-86-8 6167 2833
31
Dapsone Approved, Investigational Phase 2 80-08-0 2955
32
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
33 Anti-HIV Agents Phase 2
34 Reverse Transcriptase Inhibitors Phase 2
35 Anti-Retroviral Agents Phase 2
36 Antiviral Agents Phase 2
37 Immunosuppressive Agents Phase 2
38 Immunologic Factors Phase 2
39 Anti-Infective Agents Phase 2
40 Antirheumatic Agents Phase 2
41 Antimetabolites Phase 2
42 Folic Acid Antagonists Phase 2
43 Vitamin B Complex Phase 2
44 Anti-Bacterial Agents Phase 2
45 Vitamin B9 Phase 2
46 Folate Phase 2
47 Narcotics Phase 2
48 Narcotic Antagonists Phase 2
49 Tubulin Modulators Phase 2
50 Antiparasitic Agents Phase 2

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 CHUSPAN PAN BP Treatment of Polyarteritis Nodosa and Microscopic Polyangiitis Without Poor-Prognosis Factors a Prospective Randomized Study in 125 Patients Unknown status NCT00400075 Phase 4 azathioprine;cyclophosphamide
2 Treatment of Necrotizing Vasculitides for Patients Older Than 65 Years Comparison of Two Strategies Combining Steroids With or Without Immunosuppressants Completed NCT00307671 Phase 4 prednisone, methylprednisolone,cyclophosphamides;Cyclophosphamide, Azathioprine,prednisone,methylprednisolone;Mycophenolate mofetil,methotrexate
3 Evaluation of a New Treatment Strategy for Patients With Microscopic Polyangiitis, Polyarteritis Nodosa or Eosinophilic Granulomatosis With Polyangiitis (Churg Strauss Syndrome) Without Poor Prognosis Factors Completed NCT00647166 Phase 3 corticosteroid and azathioprine;corticosteroid and placebo
4 Cyclophosphamide Versus Methotrexate for Remission Maintenance in Systemic Necrotizing Vasculitides. A Randomized Controlled Trial. Unknown status NCT00751517 Phase 2 Methotrexate;Cyclophosphamide
5 Lamivudine for Chronic Hepatitis B Completed NCT00001457 Phase 2 Lamivudine
6 Low Dose Naltrexone to Improve Physical Health in Patients With Vasculitis Recruiting NCT03482479 Phase 2 Naltrexone Hydrochloride
7 A Randomized Multicenter Study for Isolated Skin Vasculitis Recruiting NCT02939573 Phase 2 Colchicine;Dapsone;Azathioprine
8 Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases Unknown status NCT00006055 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;methylprednisolone;prednisone
9 ACR/EULAR Endorsed Study to Develop New Diagnostic and Classification Criteria for Primary Systemic Vasculitis Unknown status NCT01066208
10 Reproductive Health in Men and Women With Vasculitis Completed NCT02176070
11 Illness Perception, Fatigue, and Function in Systemic Vasculitis (The VCRC Vasculitis Perception (VIP) Study) Completed NCT02190916
12 The Journey of Patients With Vasculitis From First Symptom to Diagnosis Completed NCT03410290
13 VCRC Validation of Patient-Reported Diagnostic Data Completed NCT02190942
14 Educational Needs of Patients With Systemic Vasculitis- an International Survey Completed NCT02190929
15 Impact of Vasculitis on Employment and Income. An Online Survey of Participants in the VCRC Patient Contact Registry Completed NCT02476292
16 Chronic Childhood Vasculitis: Characterizing the Individual Rare Diseases to Improve Patient Outcomes Recruiting NCT02006134
17 The Vasculitis Pregnancy Registry (V-PREG) Recruiting NCT02593565
18 VCRC Tissue Biorepository Collection Protocol Recruiting NCT02967068
19 Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis Recruiting NCT02257866
20 Clinical Transcriptomics in Systemic Vasculitis (CUTIS) Recruiting NCT03004326
21 Longitudinal Protocol of Polyarteritis Nodosa Active, not recruiting NCT00315406
22 VCRC Genetic Repository One-Time DNA Protocol Active, not recruiting NCT01241305

Search NIH Clinical Center for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome

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Genetic Tests for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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Anatomical Context for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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MalaCards organs/tissues related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

40
Liver, Spleen, Bone Marrow, Bone, Brain, Skin, Monocytes
Sources

Publications for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

About this section

Articles related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

(show top 50) (show all 168)
# Title Authors PMID Year
1
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. 6 25 57
26867732 2016
2
Early-onset stroke and vasculopathy associated with mutations in ADA2. 6 25 57
24552284 2014
3
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 6 57 25
24552285 2014
4
Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2. 25 57 61
30406060 2018
5
A 9.5-year-old boy with recurrent neurological manifestations and severe hypertension, treated initially for polyarteritis nodosa, was subsequently diagnosed with adenosine deaminase type 2 deficiency (DADA2) which responded to anti-TNF-α. 61 25
30642227 2020
6
Identification of Novel Adenosine Deaminase 2 Gene Variants and Varied Clinical Phenotype in Pediatric Vasculitis. 25 61
31008556 2019
7
Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2). 61 25
30924144 2019
8
Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2. 61 25
31015188 2019
9
Deficiency of adenosine deaminase 2; special focus on central nervous system imaging. 25 61
29913178 2019
10
Childhood Hodgkin Lymphoma: Think DADA2. 61 25
30644014 2019
11
Warts and DADA2: a Mere Coincidence? 61 25
30386947 2018
12
Genetic testing for DADA2: How can we avoid missing patients? 25 61
30206352 2018
13
ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease. 25 61
30139808 2018
14
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience. 61 25
29681619 2018
15
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment. 25 61
29951947 2018
16
Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia. 61 25
29564582 2018
17
Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. 61 25
29271561 2018
18
Hematologic Manifestations of Deficiency of Adenosine Deaminase 2 (DADA2) and Response to Tumor Necrosis Factor Inhibition in DADA2-Associated Bone Marrow Failure. 61 25
29411230 2018
19
Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency. 25 61
28516235 2018
20
Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences. 25 61
29963054 2018
21
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. 25 61
28974505 2017
22
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. 61 25
28522451 2017
23
Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders. 61 25
28983775 2017
24
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. 25 61
28493328 2017
25
Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2. 25 61
28230570 2017
26
Monogenic polyarteritis: the lesson of ADA2 deficiency. 25 61
27609179 2016
27
Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency. 61 25
26922074 2016
28
Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa. 25 61
26131734 2015
29
Mutant ADA2 in vasculopathies. 57
25075846 2014
30
Mutant ADA2 in vasculopathies. 57
25075845 2014
31
Mutant ADA2 in vasculopathies. 57
25075848 2014
32
ADA2 deficiency due to a novel structural variation in 22q11.1. 25
30920658 2019
33
Treatment Strategies for Deficiency of Adenosine Deaminase 2. 25
30995379 2019
34
Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. 25
29936104 2018
35
ADA2 deficiency: Clonal lymphoproliferation in a subset of patients. 25
29391253 2018
36
ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation. 25
30692987 2018
37
Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation. 25
28830446 2017
38
Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. 25
27514238 2016
39
Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases. 25
27059682 2016
40
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation. 25
26607704 2016
41
ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters. 25
27252897 2016
42
A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations. 25
26233953 2015
43
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. 25
25457153 2015
44
Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy. 25
24737293 2014
45
Mutations in CECR1 associated with a neutrophil signature in peripheral blood. 25
25278816 2014
46
Safety of anti-TNF agents during pregnancy and breastfeeding in women with inflammatory bowel disease. 25
23752881 2013
47
Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages. 25
20453107 2010
48
Structural basis for the growth factor activity of human adenosine deaminase ADA2. 25
20147294 2010
49
Neurological toxicity of long-term (>1 yr) thalidomide therapy in patients with multiple myeloma. 25
15693790 2005
50
Thalidomide inhibits tumor necrosis factor-alpha production and antigen presentation by Langerhans cells. 25
14708607 2003
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Variations for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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ClinVar genetic disease variations for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

6 (show top 50) (show all 120)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADA2 NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) SNV Pathogenic 189342 rs775440641 22:17669232-17669232 22:17188342-17188342
2 ADA2 NM_001282225.2(ADA2):c.791G>C (p.Trp264Ser) SNV Pathogenic 120307 rs587777242 22:17672663-17672663 22:17191773-17191773
3 ADA2 NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter) SNV Pathogenic 852411 22:17670870-17670870 22:17189980-17189980
4 ADA2 NM_001282225.2(ADA2):c.661_664del (p.Ala221fs) Deletion Pathogenic 645215 rs766602945 22:17684542-17684545 22:17203652-17203655
5 ADA2 NM_001282225.2(ADA2):c.1085G>A (p.Trp362Ter) SNV Pathogenic 862977 22:17663648-17663648 22:17182758-17182758
6 ADA2 NM_001282225.2(ADA2):c.973-2A>G SNV Pathogenic 541735 rs139750129 22:17669339-17669339 22:17188449-17188449
7 ADA2 NM_001282225.2(ADA2):c.144del (p.Arg49fs) Deletion Pathogenic 640066 rs756881285 22:17690424-17690424 22:17209534-17209534
8 ADA2 NM_001282225.2(ADA2):c.326C>A (p.Ala109Asp) SNV Pathogenic 120300 rs587777240 22:17688177-17688177 22:17207287-17207287
9 ADA2 NM_001282225.2(ADA2):c.1072G>A (p.Gly358Arg) SNV Pathogenic 420337 rs45511697 22:17669238-17669238 22:17188348-17188348
10 ADA2 NM_001282225.2(ADA2):c.271del (p.His91fs) Deletion Pathogenic 935937 22:17690297-17690297 22:17209407-17209407
11 ADA2 NM_001282225.2(ADA2):c.336C>G (p.His112Gln) SNV Pathogenic 120302 rs587777241 22:17688167-17688167 22:17207277-17207277
12 ADA2 NM_001282225.2(ADA2):c.144dup (p.Arg49fs) Duplication Pathogenic 586963 rs756881285 22:17690423-17690424 22:17209533-17209534
13 ADA2 NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu) SNV Pathogenic 120305 rs148936893 22:17684454-17684454 22:17203564-17203564
14 ADA2 NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) SNV Pathogenic 120301 rs200930463 22:17690428-17690428 22:17209538-17209538
15 ADA2 NC_000022.11:g.(?_17188319)_(17188467_?)del Deletion Pathogenic 583460 22:17669209-17669357 22:17188319-17188467
16 ADA2 NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) SNV Pathogenic 120303 rs77563738 22:17687997-17687997 22:17207107-17207107
17 ADA2 NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) SNV Pathogenic 120299 rs376785840 22:17662794-17662794 22:17181904-17181904
18 ADA2 NM_001282225.2(ADA2):c.1367A>G (p.Tyr456Cys) SNV Pathogenic 624589 rs747774101 22:17662785-17662785 22:17181895-17181895
19 ADA2 NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) SNV Pathogenic/Likely pathogenic 120304 rs202134424 22:17690429-17690429 22:17209539-17209539
20 ADA2 NM_001282225.2(ADA2):c.754-2A>G SNV Likely pathogenic 947325 22:17672702-17672702 22:17191812-17191812
21 ADA2 NM_001282225.2(ADA2):c.-46-108_542+142del Deletion Likely pathogenic 973523 22:17687819-17690721 22:17206929-17209831
22 ADA2 NM_001282225.2(ADA2):c.559A>C (p.Thr187Pro) SNV Likely pathogenic 973614 22:17684647-17684647 22:17203757-17203757
23 ADA2 NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs) Deletion Likely pathogenic 800755 rs1601419986 22:17662458-17662462 22:17181568-17181572
24 ADA2 NM_001282225.2(ADA2):c.154C>G (p.Leu52Val) SNV Likely pathogenic 872926 rs776351526
25 ADA2 NM_001282225.2(ADA2):c.1367A>G (p.Tyr456Cys) SNV Likely pathogenic 624611 rs747774101 22:17662785-17662785 22:17181895-17181895
26 ADA2 NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) SNV Likely pathogenic 120306 rs200930463 22:17690428-17690428 22:17209538-17209538
27 ADA2 NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) SNV Likely pathogenic 522502 rs1226708979 22:17662883-17662883 22:17181993-17181993
28 ADA2 NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp) SNV Conflicting interpretations of pathogenicity 541731 rs202134424 22:17690429-17690429 22:17209539-17209539
29 ADA2 NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp) SNV Uncertain significance 375246 rs199614299 22:17690423-17690423 22:17209533-17209533
30 ADA2 NM_001282225.2(ADA2):c.740C>T (p.Ala247Val) SNV Uncertain significance 375251 rs750868279 22:17684466-17684466 22:17203576-17203576
31 ADA2 NM_001282225.2(ADA2):c.799A>C (p.Lys267Gln) SNV Uncertain significance 872927
32 ADA2 NM_001282225.2(ADA2):c.1430dup (p.Met477fs) Duplication Uncertain significance 961329 22:17662721-17662722 22:17181831-17181832
33 ATP6V1E1 NC_000022.10:g.(?_17565962)_(18570861_?)dup Duplication Uncertain significance 655211 22:17565962-18570861
34 ADA2 NM_001282225.2(ADA2):c.1443G>T (p.Lys481Asn) SNV Uncertain significance 973613 22:17662466-17662466 22:17181576-17181576
35 ADA2 NM_001282225.2(ADA2):c.542+5G>A SNV Uncertain significance 948977 22:17687956-17687956 22:17207066-17207066
36 ADA2 NM_001282225.2(ADA2):c.662C>T (p.Ala221Val) SNV Uncertain significance 951844 22:17684544-17684544 22:17203654-17203654
37 ADA2 NM_001282225.2(ADA2):c.10G>A (p.Asp4Asn) SNV Uncertain significance 953717 22:17690558-17690558 22:17209668-17209668
38 ADA2 NM_001282225.2(ADA2):c.608T>C (p.Val203Ala) SNV Uncertain significance 953832 22:17684598-17684598 22:17203708-17203708
39 ADA2 NM_001282225.2(ADA2):c.289C>G (p.Gln97Glu) SNV Uncertain significance 953994 22:17690279-17690279 22:17209389-17209389
40 ADA2 NM_001282225.2(ADA2):c.718G>A (p.Val240Met) SNV Uncertain significance 955176 22:17684488-17684488 22:17203598-17203598
41 ADA2 NM_001282225.2(ADA2):c.143G>C (p.Gly48Ala) SNV Uncertain significance 955798 22:17690425-17690425 22:17209535-17209535
42 ADA2 NM_001282225.2(ADA2):c.1214T>C (p.Ile405Thr) SNV Uncertain significance 956302 22:17663519-17663519 22:17182629-17182629
43 ADA2 NM_001282225.2(ADA2):c.505C>T (p.Arg169Trp) SNV Uncertain significance 956376 22:17687998-17687998 22:17207108-17207108
44 ADA2 NM_001282225.2(ADA2):c.1190A>C (p.Tyr397Ser) SNV Uncertain significance 960634 22:17663543-17663543 22:17182653-17182653
45 ADA2 NM_001282225.2(ADA2):c.32C>T (p.Ala11Val) SNV Uncertain significance 962792 22:17690536-17690536 22:17209646-17209646
46 ADA2 NM_001282225.2(ADA2):c.1033G>A (p.Ala345Thr) SNV Uncertain significance 963061 22:17669277-17669277 22:17188387-17188387
47 ADA2 NM_001282225.2(ADA2):c.977G>A (p.Gly326Glu) SNV Uncertain significance 964448 22:17669333-17669333 22:17188443-17188443
48 ADA2 NM_001282225.2(ADA2):c.194C>T (p.Thr65Met) SNV Uncertain significance 582996 rs61747288 22:17690374-17690374 22:17209484-17209484
49 ADA2 NM_001282225.2(ADA2):c.935G>C (p.Arg312Pro) SNV Uncertain significance 573691 rs746970158 22:17670869-17670869 22:17189979-17189979
50 ADA2 NM_001282225.2(ADA2):c.359C>T (p.Thr120Ile) SNV Uncertain significance 578206 rs755786336 22:17688144-17688144 22:17207254-17207254

UniProtKB/Swiss-Prot genetic disease variations for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 ADA2 p.Gly47Arg VAR_071137 rs202134424
2 ADA2 p.Gly47Val VAR_071138 rs200930463
3 ADA2 p.Ala109Asp VAR_071139 rs587777240
4 ADA2 p.His112Gln VAR_071140 rs587777241
5 ADA2 p.Arg169Gln VAR_071141 rs77563738
6 ADA2 p.Pro251Leu VAR_071142 rs148936893
7 ADA2 p.Trp264Ser VAR_071143 rs587777242
8 ADA2 p.Tyr453Cys VAR_071144 rs376785840

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Expression for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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Search GEO for disease gene expression data for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome.
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Pathways for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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GO Terms for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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Sources for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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